Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report.

BACKGROUND: White-Sutton (WHSUS) is a recently recognized syndrome caused by mutations of the POGZ gene. Approximately 70 patients have been reported to date. Intellectual disability, hypotonia, behavioral abnormalities, autism, and typical facial dysmorphisms are recognized as WHSUS features; however, still few patients receive a comprehensive psychometric, behavioral and neurological examination. In this report, we describe the pediatric, dysmorphological, neurological, psychometric and behavioral phenotype in a new WHSUS patient due to a novel heterozygous POGZ mutation, highlighting the distinctive epileptic phenotype and the cognitive pattern. CASE PRESENTATION: The patient, an 8 years-old girl, presented history of hypotonia, motor and speech delay, and distinctive facial features. The diagnosis of WHSUS followed the identification of the de novo variant p.Asp828GlyfsTer36 (c.2482dupG) in the POGZ gene. The patient showed a distinctive neurological phenotype with the occurrence of both paroxysmal not-epileptic events in the first 6 months of age and EEG abnormalities without evidence of clinical seizures after the first year of age. Psychological and behavioral testing highlighted moderate intellectual and communication deficit, mild autism spectrum and visual-motor integration deficit. CONCLUSIONS: This is the first described case of WHSUS with a co-existence of paroxysmal not-epileptic events and abnormal EEG without seizures in the same patient. Together with the available literature data, this observation suggests that paroxysmal not-epileptic events could be more frequent than expected and that this feature belongs to the WHSUS phenotypic spectrum. Autism is a known comorbidity of WHSUS but is still poorly investigated. Specific clinical testing could help detect also mild autistic phenotypes and better define autism prevalence in POGZ-related syndrome. Special attention should be given to symptoms such as stereotypies, social withdrawal, and hyperactivity that, when present, should be considered as possible signs of autism symptoms. The dissection of the neurological and behavioral phenotype is crucial for individualized therapies tailored to patient's needs.

[Telepsychiatry in adults and adolescents: a useful tool against CoViD-19.] / Telepsichiatria negli adulti e negli adolescenti: uno strumento utile contro la CoViD-19.

CoViD-19 is a disease caused by the novel coronavirus (SARS-CoV-2), originated from China in December 2019. In March 2020, CoViD-19 was declared a pandemic, having spread all over the word. The psychological impact of CoViD-19 disease must be recognized alongside the physical symptoms for all those affected. Furhermore quarantine for coronavirus has serious psychological side effects, such as depression and anxiety that are more likely to occur and worsen. Furhermore quarantine reduces the availability of psychiatric and psychological interventions. The evidence base for telepsychiatry is growing in adults and adolescents. A growing body of literature suggests that use of telepsychiatry to provide mental health services has the potential to remove geographic barriers between patients and providers and improves quality care. It has increased the volume of patients that physicians can reach and diagnose, as well as allowing them to treat patients.

Successful use of rFVIIa for major breast surgery prophylaxis in congenital factor VII deficiency: a case report.

INTRODUCTION: Factor VII deficiency is a rare cause of haemorrhagic syndrome. The Authors describe a case of a 46 years old patient with congenital factor VII deficiency that successfully underwent breast surgery after treatment with Novoseven® before the procedure. MATERIALS AND METHODS: The AA used the schedule reported below to value the levels of PT and aPTT in the patient. Blood Collection: Venous blood from patient and control was collected in glass tubes for routine serum preparation and into plastic tubes (0.129 M sodium citrate, Becton-Dickinson Vacutainer Systems) in a ratio of blood to anticoagulant of 9:1. Platelet Poor Plasma (PPP) was obtained by centrifugation at 4.000 x g for 15 minutes at room temperature. The plasma was recentrifuged for another 10 min at 12000 g to fully eliminate platelet concentration. A normal control plasma pool was prepared by mixing equal volumes of platelet-free plasma obtained from at least 50 normal volunteers. Prothrombin time (PT) was measured with Recombiplastin (IL, Milano Italy). Activated partial thromboplastin times (APTT) was measured with APTT-SP (IL, Milano Italy). They were performed on the coagulation analyzer ACL 1000 (IL, Milano Italy). RESULTS: The results were interpreted from the ratio of the patient times to the normal control times (Table I). CONCLUSION: The infusion of Novoseven solved the clotting problems enabling the surgical procedure, without risks for the patient.

Successful use of rFVIIa for major breast surgery prophylaxis in congenital factor VII deficiency.

INTRODUCTION: Factor VII deficiency is a rare cause of haemorrhagic syndrome. The Authors describe a case of a 46 years old patient with congenital factor VII deficiency that successfully underwent breast surgery after treatment with Novoseven® before the procedure. MATERIALS AND METHODS: The AA used the schedule reported below to value the levels of PT and aPTT in the patient. Blood Collection: Venous blood from patient and control was collected in glass tubes for routine serum preparation and into plastic tubes (0.129 M sodium citrate, Becton-Dickinson Vacutainer Systems) in a ratio of blood to anticoagulant of 9:1. Platelet Poor Plasma (PPP) was obtained by centrifugation at 4.000 x g for 15 minutes at room temperature. The plasma was recentrifuged for another 10 min at 12000 g to fully eliminate platelet concentration. A normal control plasma pool was prepared by mixing equal volumes of platelet-free plasma obtained from at least 50 normal volunteers. Prothrombin time (PT) was measured with Recombiplastin (IL, Milano Italy). Activated partial thromboplastin times (APTT) was measured with APTT-SP (IL, Milano Italy). They were performed on the coagulation analyzer ACL 1000 (IL, Milano Italy). RESULTS: The results were interpreted from the ratio of the patient times to the normal control times (Table I). CONCLUSION: The infusion of Novoseven solved the clotting problems enabling the surgical procedure, without risks for the patient. KEY WORDS: Breast cancer, Factor VII deficiency, Major surgery, Recombinant fVIIa.